Clinical trials: Genetic Disease
Achondroplasia
Extension Study of Infigratinib in Children With Achondroplasia (ACH)
This is a Phase 2, multicenter, open-label, extension (OLE) study to evaluate the long-term safety, tolerability, and efficacy of infigratinib, an FGFR 1-3-selective tyrosine kinase inhibitor, in participants with ACH who…
- Trial name
- NCT05145010
- Testing
- Infigratinib
- Where
- 31 sites in United States, Argentina and 8 more
- Volunteers
- 325 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Homozygous Familial Hypercholesterolemia
Study of Zodasiran in Adolescent Participants With Homozygous Familial Hypercholesterolemia
This study will evaluate the efficacy and safety of zodasiran subcutaneous (sc) injection in participants 12 to <18 years of age with genetically or clinically diagnosed homozygous familial hypercholesterolemia (HoFH) and…
- Trial name
- SPRUCE (NCT07473843)
- Testing
- Zodasiran
- Where
- 3 sites in United States, Denmark and 1 more
- Volunteers
- 10 people
- Sponsor
- Arrowhead Pharmaceuticals
Alpha 1 Antitrypsin Deficiency
A Non-inferiority Pharmacokinetic and Safety/Tolerability Study of Two Different Doses of Weekly SC Alpha1-PI 15% Compared With Corresponding Standard IV Alpha1-PI in Participants With Alpha1-Antitrypsin Deficiency (AATD)
This study is designed to compare two different weekly doses of a medicine called Alpha1-Proteinase Inhibitor given by injection under the skin with the standard doses of the same medicine given through a vein.
- Trial name
- SWIFT-SC (NCT07555483)
- Testing
- Alpha-1 15%, Liquid Alpha1-PI
- Where
- 22 sites in United States, Denmark and 7 more
- Volunteers
- 40 people
- Sponsor
- Grifols Therapeutics LLC
Heterozygous Familial Hypercholesterolemia (HeFH)
EDIT-401 in Adults Who Require Additional Lowering of Low-Density Lipoprotein Cholesterol (LDL-C)
A phase 1/2, two-part trial consisting of an open label dose-escalation part and a randomized, double blind, placebo-controlled part to investigate safety, tolerability, pharmacokinetics, and efficacy with EDIT-401 gene editing…
- Trial name
- NCT07894887
- Testing
- Drug: EDIT-401
- Where
- 2 sites in Australia
- Volunteers
- 56 people
- Sponsor
- Editas Medicine, Inc.
Alpha 1 Antitrypsin Deficiency
A Study of AIR-001 in Adults With Alpha-1 Antitrypsin Deficiency (AATD)
This is a Phase 1, open-label, single ascending dose (SAD) and multiple dose (MD) study of AIR-001 in participants with alpha-1 antitrypsin deficiency (AATD) due to PiZZ genotype.
- Trial name
- RepAIR1 (NCT07431112)
- Testing
- AIR-001 SAD dose level 1, AIR-001 SAD dose level 2, AIR-001 SAD dose level 3
- Where
- 13 sites in Australia, Georgia and 7 more
- Volunteers
- 54 people
- Sponsor
- AIRNA Corporation
Achondroplasia
Study to Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With Achondroplasia
This is a multicenter, multinational, randomized, active-controlled, operationally seamless Phase 2/3 study of BMN 333 in treatment-naïve pediatric participants with achondroplasia (ACH).
- Trial name
- ASPEN (NCT07441876)
- Testing
- BMN 333, Vosoritide Injection [Voxzogo]
- Where
- 28 sites in United States, Australia and 7 more
- Volunteers
- 160 people
- Sponsor
- BioMarin Pharmaceutical
Atopic Dermatitis
A Study to Learn About the Study Medicine Called Tilrekimig in People With Moderate-to Severe Eczema
The purpose of this study is to find out how well tilrekimig works, how safe it is, and how it affects the body in adults and adolescents with moderate to severe atopic dermatitis (eczema).
- Trial name
- Tilrek (NCT07783425)
- Testing
- Tilrekimig, Dupilumab
- Where
- 32 sites in United States, Japan
- Volunteers
- 1,375 people
- Sponsor
- Pfizer
Dilated Cardiomyopathy (DCM), Cardiovascular Diseases
BAG3-DCM Natural History Study
The goal of this international observational study is to learn about the natural history of Dilated Cardiomyopathy (DCM) arising from pathogenic BAG3 variants in adult patients ≥18 years of age.
- Conditions
- Dilated Cardiomyopathy (DCM), Cardiovascular Diseases, Heart Diseases, Genetic Diseases
- Trial name
- NCT07486752
- Volunteers
- 30 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Severe Hemophilia A
Safety and Pharmacokinetics of Subcutaneous Injection of OCTA101 in Adult Patients With Severe Hemophilia A
This Phase 1/2 study will be a dose escalation study in adults in 5 cohorts (named cohorts 1, 2, 3, 5 and 6), with the main purpose to assess the safety of subcutaneous injection of OCTA101 (a human-cl rhFVIII and recombinant…
- Trial name
- NCT04046848
- Testing
- OCTA101
- Where
- Bulgaria
- Volunteers
- 36 people
- Sponsor
- Octapharma
Atopic Dermatitis
A Study to Learn About the Study Medicine Called Tilrekimig in People With Moderate-to-Severe Eczema
The purpose of this study is to find out how well tilrekimig works, how safe it is, and how it affects the body when used together with medicated creams or ointments in adults and adolescents with moderate to severe atopic…
- Trial name
- NCT07765888
- Testing
- Tilrekimig
- Where
- 21 sites in United States, Japan
- Volunteers
- 375 people
- Sponsor
- Pfizer
Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
XPhePiccosMR is a prospective, single-arm, open label, observational study that aims to evaluate the acceptability and tolerability of XPhe Piccos, a slow-release, phenylalanine-free protein substitute in the form of tiny…
- Conditions
- Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn, Brain Disorder, Metabolic, Brain Diseases
- Trial name
- XPhePiccosMR (NCT07802366)
- Testing
- Slow release, phenylalanine-free protein substitute tablets
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Cardiomyopathies, Heart Diseases
PKP2-ACM Natural History Study
The goal of this study is to describe the natural history and clinical events for patients who have Arrhythmogenic Cardiomyopathy with Pathogenic Plakophilin-2 Variants (PKP2-ACM) managed with standard of care.
- Conditions
- Cardiomyopathies, Heart Diseases, Cardiovascular Diseases, Genetic Diseases
- Trial name
- NCT06644742
- Where
- 3 sites in United States, Netherlands
- Volunteers
- 36 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Myotonic Dystrophy Type 1 (DM1)
A Study of Long-term Safety and Efficacy of VX-670 in Participants With Myotonic Dystrophy Type I
The purpose of the study is to evaluate the long-term safety and tolerability, efficacy and pharmacokinetics of VX-670 in participants with Myotonic Dystrophy Type I (DM1).
- Trial name
- NCT06926621
- Testing
- VX-670
- Where
- 16 sites in United States, Australia and 6 more
- Volunteers
- 44 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Muscular Dystrophies, Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy)
A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 Skipping
A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1044 for the treatment of Duchenne Muscular Dystrophy (DMD) with Gene Mutations Amenable to Exon 44 Skipping
- Conditions
- Muscular Dystrophies, Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy), Muscular Disorders, Atrophic, Muscular Disease
- Trial name
- SAFARI44 (NCT07587242)
- Testing
- AOC 1044
- Where
- 18 sites in Australia, Belgium and 6 more
- Volunteers
- 70 people
- Sponsor
- Avidity Biosciences, Inc.
Friedreich Ataxia, Cardiomyopathies
A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults
The goal of this clinical trial is to learn how ATI-105 administered to healthy participants at works in the body at different doses and with or without food.
- Conditions
- Friedreich Ataxia, Cardiomyopathies, Central Nervous System Diseases, Neuromuscular Diseases
- Trial name
- NCT07869654
- Testing
- ATI-105
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Adjuvia Therapeutics, Inc.
Primary Hyperoxaluria Type 1 (PH1), Primary Hyperoxaluria Type 2 (PH2)
Long Term Extension Study in Patients With Primary Hyperoxaluria
The proposed study is designed to provide patients previously enrolled in Phase 1 and 2 studies of DCR-PHXC and their siblings (<18 years old) long-term access to DCR-PHXC, and to evaluate the long-term safety and efficacy of…
- Conditions
- Primary Hyperoxaluria Type 1 (PH1), Primary Hyperoxaluria Type 2 (PH2), Kidney Diseases, Urologic Diseases
- Trial name
- PHYOX3 (NCT04042402)
- Testing
- DCR-PHXC
- Where
- 23 sites in United States, Australia and 11 more
- Volunteers
- 75 people
- Sponsor
- Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Alpha1-Antitrypsin Deficiency
A Study to Evaluate Safety, Tolerability and Pharmacokinetics of Two Different Doses of Alpha1-Proteinase Inhibitor Subcutaneous (Human) 15% in Participants With Alpha1-Antitrypsin Deficiency
The purpose of this study is to evaluate the safety and tolerability of 72 milligrams per kilogram (mg/kg) and 180 mg/kg Alpha-1 15%, administered as a single-dose subcutaneous (SC) infusion and subsequently as weekly SC…
- Trial name
- NCT04722887
- Testing
- Alpha-1 15%, Liquid Alpha1-Proteinase Inhibitor (Human)
- Where
- 5 sites in United States
- Volunteers
- 17 people
- Sponsor
- Grifols Therapeutics LLC
Muscular Disorders, Atrophic, Muscular Diseases
Managed Access Program for Del-zota in Participants With DMD Mutations Amenable to Exon 44 Skipping
The purpose of this Managed Access Program is to allow access to delpacibart zotadirsen (AOC 1044) for eligible patients diagnosed with DMD mutations amenable to exon 44 skipping.
- Conditions
- Muscular Disorders, Atrophic, Muscular Diseases, Musculoskeletal Diseases, Neuromuscular Diseases
- Trial name
- NCT07250737
- Testing
- delpacibart zotadirsen
- Where
- 22 sites in United States
- Sponsor
- Avidity Biosciences, Inc.
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease
An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency
Ornithine Transcarbamylase (OTC) deficiency, the most common urea cycle disorder, is an inherited metabolic disorder caused by a genetic defect in a liver enzyme responsible for detoxifying of ammonia.
- Conditions
- Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Ornithine Carbamoyltransferase Deficiency (Disorder), Urea Cycle Disorders, Inborn
- Trial name
- NCT06255782
- Testing
- ECUR-506
- Where
- 12 sites in United States, Australia and 2 more
- Volunteers
- 20 people
- Sponsor
- iECURE, Inc.
Hemophilia A
A Study to Evaluate Impact of Efanesoctocog Alfa on Long-term Joint Health in Participants With Hemophilia A in Taiwan
This is a national, multicenter, retrospective/prospective, observational study in Taiwan designed to assess effectiveness, safety, and usage of efanesoctocog alfa prophylaxis treatment in hemophilia A participants.
- Trial name
- PROTECT-ALT (NCT06684314)
- Testing
- Efanesoctocog alfa
- Where
- 10 sites in Taiwan
- Volunteers
- 79 people
- Sponsor
- Sanofi